Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome
about
A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathyHuman Knockout Carriers: Dead, Diseased, Healthy, or Improved?Mutations with pathogenic potential in proteins located in or at the composite junctions of the intercalated disk connecting mammalian cardiomyocytes: a reference thesaurus for arrhythmogenic cardiomyopathies and for Naxos and Carvajal diseasesMechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathyMechanistic basis of desmosome-targeted diseasesLis1 is essential for cortical microtubule organization and desmosome stability in the epidermisA systematic survey of loss-of-function variants in human protein-coding genesA novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia.Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe)Desmosomal molecules in and out of adhering junctions: normal and diseased States of epidermal, cardiac and mesenchymally derived cells.Synergy analysis reveals association between insulin signaling and desmoplakin expression in palmitate treated HepG2 cellsDesmoplakin and talin2 are novel mRNA targets of fragile X-related protein-1 in cardiac muscle.iASPP/p63 autoregulatory feedback loop is required for the homeostasis of stratified epithelia.Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalitiesInsights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosaMechanotransduction in cardiac hypertrophy and failure.Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratodermaDesmoplakin is important for proper cardiac cell-cell interactions.Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.Cell-cell connection to cardiac diseaseProlactin mediates effects of chronic psychological stress on induction of fibrofatty cells in the heart.Desmoplakin Variants Are Associated with Idiopathic Pulmonary Fibrosis.Connexin defects underlie arrhythmogenic right ventricular cardiomyopathy in a novel mouse model.Involvement of Rictor/mTORC2 in cardiomyocyte differentiation of mouse embryonic stem cells in vitro.Molecular basis of hereditary cardiomyopathy: abnormalities in calcium sensitivity, stretch response, stress response and beyond.Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.Do cell junction protein mutations cause an airway phenotype in mice or humans?Desmosomal genodermatoses.Variant Carvajal syndrome with additional dental anomalies.Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C): a review of molecular and clinical literature.When rare illuminates common: how cardiocutaneous syndromes transformed our perspective on arrhythmogenic cardiomyopathy.Insights into desmosome biology from inherited human skin disease and cardiocutaneous syndromes.Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases.Identification and characterization of DSPIa, a novel isoform of human desmoplakin.Control of cortical microtubule organization and desmosome stability by centrosomal proteins.Novel gene mutation identified in a patient with arrhythmogenic ventricular cardiomyopathy.Microtubule-Actin Crosslinking Factor 1 and Plakins as Therapeutic Drug Targets.
P2860
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P2860
Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome
description
2006 nî lūn-bûn
@nan
2006 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Loss of desmoplakin isoform I ...... ilure in a Naxos-like syndrome
@ast
Loss of desmoplakin isoform I ...... ilure in a Naxos-like syndrome
@en
Loss of desmoplakin isoform I ...... ilure in a Naxos-like syndrome
@nl
type
label
Loss of desmoplakin isoform I ...... ilure in a Naxos-like syndrome
@ast
Loss of desmoplakin isoform I ...... ilure in a Naxos-like syndrome
@en
Loss of desmoplakin isoform I ...... ilure in a Naxos-like syndrome
@nl
prefLabel
Loss of desmoplakin isoform I ...... ilure in a Naxos-like syndrome
@ast
Loss of desmoplakin isoform I ...... ilure in a Naxos-like syndrome
@en
Loss of desmoplakin isoform I ...... ilure in a Naxos-like syndrome
@nl
P2093
P2860
P356
P1476
Loss of desmoplakin isoform I ...... ilure in a Naxos-like syndrome
@en
P2093
E E Norgett
H Kayserili
M Yuksel-Apak
N J Severs
P2860
P356
10.1136/JMG.2005.032904
P407
P577
2006-02-01T00:00:00Z